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rs142336618

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs142336618(C;G)
Make rs142336618(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position49723648
GeneGMPPB
is asnp
is mentioned by
dbSNPrs142336618
ebirs142336618
HLIrs142336618
Exacrs142336618
Varsomers142336618
Maprs142336618
PheGenIrs142336618
hapmaprs142336618
1000 genomesrs142336618
hgdprs142336618
ensemblrs142336618
gopubmedrs142336618
geneviewrs142336618
scholarrs142336618
googlers142336618
pharmgkbrs142336618
gwascentralrs142336618
openSNPrs142336618
23andMers142336618
23andMe allrs142336618
SNP Nexus

SNPshotrs142336618
SNPdbers142336618
MSV3drs142336618
GWAS Ctlgrs142336618
Max Magnitude0
ClinVar
Risk rs142336618(G;G)
Alt rs142336618(G;G)
Reference rs142336618(C;C)
Significance Pathogenic
Disease Muscular dystrophy-dystroglycanopathy (limb-girdle)
Variation info
Gene GMPPB
CLNDBN Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14
Reversed 0
HGVS NC_000003.11:g.49761081C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000054440.7,